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The 18- to 23-kb deletion of the Macedonian delta beta-thalassemia includes the entire delta and beta globin genes
| Content Provider | Scilit |
|---|---|
| Author | Efremov, Gd Nikolov, N. Hattori, Y. Bakioglu, I. Huisman, Th |
| Copyright Year | 1986 |
| Description | Restriction endonuclease mapping analyses were made of DNA from a few members of a Macedonian family with hematological characteristics of delta beta-thalassemia, ie, microcytosis, normal HbA2 levels, and elevated levels of HbF (7% to 14%) with G gamma (average 40.5%) and A gamma T chains (average 59.5%). A large deletion of 18 to 23 kb was present with a 5′ breakpoint within a 670-bp segment of DNA between the HpaI and NcoI restriction sites 5′ to the delta globin gene, and a 3′ breakpoint between the BamHI and HpaI restriction sites located some 9 to 13 kb 3′ to the beta globin gene. This deletion is different from those present in other types of G gamma A gamma(delta beta)zero- thalassemia. The similarity of the hematological expression of these delta beta-thalassemic conditions which have somewhat comparable 5′ breakpoints supports the idea that an important fetal hemoglobin- controlling region lies between the psi beta and delta globin genes. |
| Related Links | https://ashpublications.org/blood/article-pdf/68/4/971/364084/971.pdf |
| Ending Page | 974 |
| Page Count | 4 |
| Starting Page | 971 |
| DOI | 10.1182/blood.v68.4.971.bloodjournal684971 |
| Journal | Blood |
| Issue Number | 4 |
| Volume Number | 68 |
| Language | English |
| Publisher | American Society of Hematology |
| Publisher Date | 1986-10-01 |
| Access Restriction | Open |
| Subject Keyword | Medical Laboratory Technology Thalassemia Deletion Globin Hpai Delta Beta Journal: Blood (Vol- 75, Issue- 4) |
| Content Type | Text |
| Resource Type | Article |
